β-Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine

In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, β‐ureidopropionase (UP) deficiency, are reported. 1D 1H‐NMR experiments were performed using a patient's urine. 3‐Ureidopropionic acid was observed in elevated concentrations in the urine spectrum. A...

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Bibliographic Details
Published in:Magnetic resonance in medicine 2001-11, Vol.46 (5), p.1014-1017
Main Authors: Moolenaar, Sytske H., Göhlich-Ratmann, Gudrun, Engelke, Udo F.H., Spraul, Manfred, Humpfer, Eberhard, Dvortsak, Peter, Voit, Thomas, Hoffmann, Georg F., Bräutigam, Christa, van Kuilenburg, André B., van Gennip, Albert, Vreken, Peter, Wevers, Ron A.
Format: Article
Language:English
Subjects:
Amidohydrolases - deficiency
Biological and medical sciences
Errors of metabolism
Female
Humans
inborn error
Infant
Investigative techniques, diagnostic techniques (general aspects)
Magnetic Resonance Spectroscopy
Medical sciences
metabolic disease
Metabolic diseases
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - enzymology
Metabolism, Inborn Errors - urine
Miscellaneous hereditary metabolic disorders
Miscellaneous. Technology
NMR
pyrimidine metabolism
Radiodiagnosis. Nmr imagery. Nmr spectrometry
β-ureidopropionase
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Summary:In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, β‐ureidopropionase (UP) deficiency, are reported. 1D 1H‐NMR experiments were performed using a patient's urine. 3‐Ureidopropionic acid was observed in elevated concentrations in the urine spectrum. A 1D 1H‐1H total correlation spectroscopy (TOCSY) and two heteronuclear 2D NMR techniques (heteronuclear multiple bond correlation (HMBC) and heteronuclear single‐quantum correlation (HSQC)) were used to identify the molecular structure of the compound that caused an unknown doublet resonance at 1.13 ppm. Combining the information from the various NMR spectra, this resonance could be assigned to 3‐ureidoisobutyric acid. These observations suggested a deficiency of UP. With 1D 1H‐NMR spectroscopy, UP deficiency can be easily diagnosed. The 1H‐NMR spectrum can also be used to diagnose patients suffering from other inborn errors of metabolism in the pyrimidine degradation pathway. Magn Reson Med 46:1014–1017, 2001. © 2001 Wiley‐Liss, Inc.
ISSN:0740-3194
1522-2594
DOI:10.1002/mrm.1289